The deposition of dopa-melanin films from dopamine solutions in oxidative conditions may offer new opportunities in surface coating methods. After having demonstrated that such films become ...impermeable to ferrocyanide anions after having reached a thickness of a few nanometers (F. Bernsmann, A. Ponche, C. Ringwald, J. Hemmerle, J. Raya, B. Bechinger, J.C. Voegel, P. Schaaf, V. Ball, Characterization of Dopamine-Melanin Growth on Silicon Oxide, Journal of Physical Chemistry C 113 (2009) 8234–8242) and after the determination of their zeta potential in the same pH conditions as those used for the film deposition we wish now to investigate the impedance spectra and zeta potential titration curve of such thin films. These properties are important to understand the electrical properties and surface chemistry of the melanin films, respectively. Such an investigation will hence allow to improve future applications of dopa-melanin films. The impedance spectra show that the films charge transfer and mass transfer resistance increase rapidly as the film deposits in parallel to a decrease of their permeability to ferrocyanide anions. The zeta potential versus pH titration curves display two inflexion points at pH values close to 6 and 9 which can be related to the titration of quinone-imine and catechol groups respectively. For the first time we show that dopa-melanin prepared in these conditions has an isoelectric point close to 4. The relevance of this finding is discussed.
The Human Gene Mutation Database (HGMD
®
) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited ...disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in over 8000 genes manually curated from over 2600 journals. With new mutation entries currently accumulating at a rate exceeding 17,000 per annum, HGMD represents de facto the central unified gene/disease-oriented repository of heritable mutations causing human genetic disease used worldwide by researchers, clinicians, diagnostic laboratories and genetic counsellors, and is an essential tool for the annotation of next-generation sequencing data. The public version of HGMD (
http://www.hgmd.org
) is freely available to registered users from academic institutions and non-profit organisations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via QIAGEN Inc.
The Human Gene Mutation Database (HGMD
®
) constitutes a comprehensive collection of published germline mutations in nuclear genes that are thought to underlie, or are closely associated with human ...inherited disease. At the time of writing (June 2020), the database contains in excess of 289,000 different gene lesions identified in over 11,100 genes manually curated from 72,987 articles published in over 3100 peer-reviewed journals. There are primarily two main groups of users who utilise HGMD on a regular basis; research scientists and clinical diagnosticians. This review aims to highlight how to make the most out of HGMD data in each setting.
The Human Gene Mutation Database (HGMD
®
) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the ...database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum. HGMD was originally established in 1996 for the scientific study of mutational mechanisms in human genes. However, it has since acquired a much broader utility as a central unified disease-oriented mutation repository utilized by human molecular geneticists, genome scientists, molecular biologists, clinicians and genetic counsellors as well as by those specializing in biopharmaceuticals, bioinformatics and personalized genomics. The public version of HGMD (
http://www.hgmd.org
) is freely available to registered users from academic institutions/non-profit organizations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via BIOBASE GmbH.
When a viscous fluid spreads underneath a deformable surface skin or crust, the peeling dynamics at the fluid front can control the rate of advance rather than bulk self-similar flow. For an elastic ...skin, this control results in a quasi-static interior blister held at constant pressure that is matched to a narrow peeling region behind the fluid front. In this paper, the analogous problem is considered for a skin that deforms either viscously or plastically, or both. In particular, the deformable surface is assumed to be a thin plate of material governed by the Herschel–Bulkley constitutive law. We examine how such a skin controls viscous flow underneath, fed at constant flux and spreading as either a planar or axisymmetric current. As for an elastic skin, the peeling dynamics at the viscous fluid front again controls the rate of spreading. However, contrary to that situation, the mathematical matching problem for viscoplastic peeling is simplified considerably as a result of an integral constraint. Despite this, the structure of the peeling region is complicated significantly by any plasticity in the skin, which can create a convoluted peeling wave ahead of the main blister that features interwoven yielded and plugged sections of the plate.
We have assessed the numbers of potentially deleterious variants in the genomes of apparently healthy humans by using (1) low-coverage whole-genome sequence data from 179 individuals in the 1000 ...Genomes Pilot Project and (2) current predictions and databases of deleterious variants. Each individual carried 281–515 missense substitutions, 40–85 of which were homozygous, predicted to be highly damaging. They also carried 40–110 variants classified by the Human Gene Mutation Database (HGMD) as disease-causing mutations (DMs), 3–24 variants in the homozygous state, and many polymorphisms putatively associated with disease. Whereas many of these DMs are likely to represent disease-allele-annotation errors, between 0 and 8 DMs (0–1 homozygous) per individual are predicted to be highly damaging, and some of them provide information of medical relevance. These analyses emphasize the need for improved annotation of disease alleles both in mutation databases and in the primary literature; some HGMD mutation data have been recategorized on the basis of the present findings, an iterative process that is both necessary and ongoing. Our estimates of deleterious-allele numbers are likely to be subject to both overcounting and undercounting. However, our current best mean estimates of ∼400 damaging variants and ∼2 bona fide disease mutations per individual are likely to increase rather than decrease as sequencing studies ascertain rare variants more effectively and as additional disease alleles are discovered.
The Human Gene Mutation Database (HGMD((R))) is a comprehensive core collection of germline mutations in nuclear genes that underlie or are associated with human inherited disease. Here, we summarize ...the history of the database and its current resources. By December 2008, the database contained over 85,000 different lesions detected in 3,253 different genes, with new entries currently accumulating at a rate exceeding 9,000 per annum. Although originally established for the scientific study of mutational mechanisms in human genes, HGMD has since acquired a much broader utility for researchers, physicians, clinicians and genetic counselors as well as for companies specializing in biopharmaceuticals, bioinformatics and personalized genomics. HGMD was first made publicly available in April 1996, and a collaboration was initiated in 2006 between HGMD and BIOBASE GmbH. This cooperative agreement covers the exclusive worldwide marketing of the most up-to-date (subscription) version of HGMD, HGMD Professional, to academic, clinical and commercial users.
The nonhuman primates most commonly used in medical research are from the genus Macaca. To better understand the genetic differences between these animal models, we present high-quality draft genome ...sequences from two macaque species, the cynomolgus/crab-eating macaque and the Chinese rhesus macaque. Comparison with the previously sequenced Indian rhesus macaque reveals that all three macaques maintain abundant genetic heterogeneity, including millions of single-nucleotide substitutions and many insertions, deletions and gross chromosomal rearrangements. By assessing genetic regions with reduced variability, we identify genes in each macaque species that may have experienced positive selection. Genetic divergence patterns suggest that the cynomolgus macaque genome has been shaped by introgression after hybridization with the Chinese rhesus macaque. Macaque genes display a high degree of sequence similarity with human disease gene orthologs and drug targets. However, we identify several putatively dysfunctional genetic differences between the three macaque species, which may explain functional differences between them previously observed in clinical studies.
Using a newly constructed panel dataset for agriculture in 17 OECD countries over the 1973–2011 period, we investigate the role of capital deepening in affecting agricultural TFP growth and the ...convergence of relative TFP levels across countries with different relative factor endowments. Our results show that capital deepening contributes positively to agricultural productivity growth among countries with similar levels of land relative to labor as reflected in relative prices. Depending on the relative endowments of land to labor, countries with relatively more abundant land are more likely to achieve technological gains through capital deepening than countries with relatively more labor. This finding is consistent with Hayami and Ruttan (
1970a
) and provides supportive evidence for the induced innovation hypothesis.
Tannic acid (TA), among other polyphenols, interacts strongly with proteins, in particular proline rich proteins, a mechanism which is at the origin of mouth astringency. Among such proline rich ...proteins are salivary rich proteins and collagen or gelatin. The formation of protein–polyphenol complexes is rarely, with some exceptions, of utility in materials science. However, when the complexation is controlled on surface templates, using the layer-by-layer deposition method, useful materials such as membranes for controlled separations or controlled polyphenol release can be obtained. The performance of such protein–TA containing films can only be improved through a better understanding of the parameters controlling the film deposition. Indeed it is widely believed and partially demonstrated that the protein–polyphenol interactions are driven through an interplay of hydrophobic interactions and hydrogen bonding. In this article, the deposition of (gelatin–TA) n films is investigated as a function of the ionic strength using a combination of characterization techniques: quartz crystal microbalance with dissipation monitoring (QCM-D), atomic force microscopy (AFM), Fourier transform spectroscopy in the attenuated total reflection mode (FTIR-ATR) and cyclic voltammetry (CV). It is shown that the film thickness and the amount of deposited film decreases strongly when the ionic strength is increased below about 50–100 mM but these film properties become almost ionic strength independent above 100 mM. The transition dynamics between these two growth regimes is investigated by putting the as prepared films in contact with a solution of different ionic strength.
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